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Open Access Articles- Top Results for DYNC1H1

DYNC1H1

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Identifiers
SymbolsDYNC1H1 ; DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22
External IDsOMIM600112 MGI103147 HomoloGene1053 GeneCards: DYNC1H1 Gene
RNA expression pattern
File:PBB GE DYNC1H1 211928 at tn.png
File:PBB GE DYNC1H1 gnf1h10152 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez177813424
EnsemblENSG00000197102ENSMUSG00000018707
UniProtQ14204Q9JHU4
RefSeq (mRNA)NM_001376NM_030238
RefSeq (protein)NP_001367NP_084514
Location (UCSC)Chr 14:
102.43 – 102.52 Mb
Chr 12:
110.6 – 110.67 Mb
PubMed search[1][2]

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[1][2][3]


Interactions

DYNC1H1 has been shown to interact with PAFAH1B1[4] and CDC5L.[5]

Clinical relevance

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[6] as well as spinal muscular atrophy with lower extremity predominance (SMA-LED).[7]

References

  1. Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB (November 2005). "Cytoplasmic dynein nomenclature". J Cell Biol 171 (3): 411–3. PMC 2171247. PMID 16260502. doi:10.1083/jcb.200508078. 
  2. Vaisberg EA, Grissom PM, McIntosh JR (August 1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J Cell Biol 133 (4): 831–42. PMC 2120833. PMID 8666668. doi:10.1083/jcb.133.4.831. 
  3. "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1". 
  4. Tai, Chin-Yin; Dujardin Denis L; Faulkner Nicole E; Vallee Richard B (March 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". J. Cell Biol. (United States) 156 (6): 959–68. ISSN 0021-9525. PMC 2173479. PMID 11889140. doi:10.1083/jcb.200109046. 
  5. Ajuh, P; Kuster B; Panov K; Zomerdijk J C; Mann M; Lamond A I (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. (ENGLAND) 19 (23): 6569–81. ISSN 0261-4189. PMC 305846. PMID 11101529. doi:10.1093/emboj/19.23.6569. 
  6. Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (August 2011). "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease". Am. J. Hum. Genet. 89 (2): 308–12. PMC 3155164. PMID 21820100. doi:10.1016/j.ajhg.2011.07.002. 
  7. Harms M B, Ori-McKenney K M, Scoto M, Tuck E P, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly M M, Miller L J, Jani-Acsadi A, Pestronk A, Shy M E, Muntoni F, Vallee R B, Baloh R H (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology 78 (16). PMID 22459677. doi:10.1212/WNL.0b013e3182556c05.  edit

Further reading

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